resistance to thyroid hormone

resistance to thyroid hormone

,

RTH

A rare autosomal dominant disorder in which patients have elevated serum levels of thyroid hormones but inappropriately elevated levels of thyroid stimulating hormone (TSH). TSH is normally suppressed by high thyroid hormone levels. Peripheral tissue responses to thyroid hormone are diminished in this syndrome although some patients are frankly thyrotoxic.
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Resistance to thyroid hormone lacks specific clinical manifestations.
Our patient was heterozygous for a mutation in the THRB gene, with an Ala residue replaced by Thr at position 317 in the protein, confirming the clinical diagnosis of resistance to thyroid hormone.
3] for 3 days is the best method to make the clinical diagnosis of resistance to thyroid hormone (6).
Resistance to thyroid hormone in a Chinese Family with R429Q mutation in the thyroid hormone receptor beta gene.
Finding the genetic basis for ADHD in children with generalized resistance to thyroid hormone can eventually help us understand attention deficit," said lead investigator Dr.
The genetic association was made when investigators compared 49 patients with generalized resistance to thyroid hormone and 55 relatives without the condition.
To determine the prevalence of thyroid hormone resistance in the general population, Hauser and Weintraub are currently collaborating with the Newborn Screening Program of the Wadsworth Center for Laboratories and Research of the New York State Department of Health to identify infants with generalized resistance to thyroid hormone.
Brucker-Davis F, Skarulis MC, Grace MB, et al: Genetic and clinical features of 42 kindreds with resistance to thyroid hormone.
Homozygosity for a "dominant negative" tyroid hormone receptor gene responsible for generalized resistance to thyroid hormone.
Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone.
Mosaicism of a Thyroid Hormone Receptor (TR) Beta Gene Mutation in Resistance to Thyroid Hormone (RTH).
Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor.

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